Partial growth hormone insensitivity

Partial growth hormone (GH) insensitivity can be defined as the clinical an d biochemical features of IGF-I deficiency without GH deficiency and in the absence of the dysmorphic: features of Laron syndrome. There is good evide nce that this form of GH insensitivity exists, both in the context of sever e GH resistance, and also in some patients with idiopathic short stature. T he series of GH insensitivity patients in the European study shows a spectr um of clinical and biological defects, with several patients at the milder end of the spectrum having normal facies, The report of the presence of het erozygous mutations of the GH receptor in patients with idiopathic short st ature has been confirmed by documentation of dominantly inherited mutations in familial short stature. Molecular screening in our unit of a group of 3 1 children with idiopathic short stature and normal GHBP, failed to identif y mutations of the intracellular domain of the GH receptor. Consequently, a lthough partial GH insensitivity is a proven entity, the clinical and bioch emical identification of patients with GH resistance should precede molecul ar analysis. The analysis of individual patients and their families is more likely to reveal mutations, rather than a strategy of blanket molecular sc reening.